Area of research
Genetics · Pediatrics, Perinatology and Child Health
Research interest
Research focused on Computational biology and RNA-Seq, with related work in Genome, Human genetics, Genetics. Notable publications include 'A comprehensive assessment of RNA-seq accuracy, reproducibility and information content by the Sequencing Quality Control Consortium', 'Comprehensive analysis of RNA-Seq data reveals extensive RNA editing in a human transcriptome', and 'Comparison of RNA-seq and microarray-based models for clinical endpoint prediction'.
Detection of genomic variants by genome sequencing in foetuses with central nervous system abnormalities
Single-cell analysis reveals specific neuronal transition during mouse corticogenesis
Low-pass genome sequencing versus chromosomal microarray analysis: implementation in prenatal diagnosis
Genome Sequencing Explores Complexity of Chromosomal Abnormalities in Recurrent Miscarriage
Low-pass whole-genome sequencing in clinical cytogenetics: a validated approach
Comparison of RNA-seq and microarray-based models for clinical endpoint prediction
A comprehensive assessment of RNA-seq accuracy, reproducibility and information content by the Sequencing Quality Control Consortium
An investigation of biomarkers derived from legacy microarray data for their utility in the RNA-seq era
Comprehensive analysis of RNA-Seq data reveals extensive RNA editing in a human transcriptome